Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde- binding protein in a form of retinitis punctata albescens

Investigative Ophthalmology and Visual Science

Volumn 40, Issue 5, 1999, Pages 1000-1004

  Morimura, Hiroyuki ^a   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; RETINOID BINDING PROTEIN;

ADULT; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HUMAN; HUMAN CELL; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RECESSIVE GENE; RETINA DEGENERATION; RETINITIS PIGMENTOSA; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; CARRIER PROTEINS; DNA; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; FUNDUS OCULI; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NIGHT BLINDNESS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINALDEHYDE; RETINITIS PIGMENTOSA;

EID: 0033066801     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

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